Skeletal dysplasia
Gene: POLR1A
characterised by a spectrum of mandibulofacial dysostosis phenotypes with or without extrafacial skeletal defects. At least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acrofacial dysostosis, Cincinnati type 616462
Publications
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: POLR1A; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reportedCreated: 29 Jul 2016, 12:43 p.m.
Tier 3Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acrofacial dysostosis, Cincinnati type 616462
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Acrofacial dysostosis, Cincinnati type 616462 for gene: POLR1A
Source NHS GMS was added to POLR1A. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for POLR1A were set to Acrofacial dysostosis, Cincinnati type 616462
Mode of inheritance for POLR1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for POLR1A were set to 25913037
POLR1A was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
POLR1A was created by sleigh
POLR1A was added to Unexplained skeletal dysplasiapanel. Sources: